ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) (rs201073998)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426387 SCV000518453 uncertain significance not provided 2017-05-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FLNA gene. The A797T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A797T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species and where threonine is present as the wild type in multiple mammalian species. In silico analysis suggests that this variant likely does not alter the protein structure/function.
Invitae RCV000547200 SCV000639770 likely benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2017-01-10 criteria provided, single submitter clinical testing

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